Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.

doi:10.1210/jcem-70-5-1325

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Article

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.

The Journal of clinical endocrinology and metabolism - 1 May 1990

Yanase T, Sanders D, Shibata A, Matsui N, Simpson E R, Waterman M R

Abstract excerpt

17 alpha-Hydroxylase deficiency is characterized by defects in either or both of the 17 alpha-hydroxylase/17,20-lyase activities. We have elucidated the molecular basis of the combined deficiency of these activities in a Japanese female who is genotypically male and the child of a consanguineous marriage. The complete exonic sequence of the patient's CYP17 (P45017 alpha) gene revealed a seven-basepair duplication...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Aldehyde-Lyases
Amino Acid Sequence
Base Sequence
Blotting, Southern
Cytochrome P-450 Enzyme System
DNA Mutational Analysis
Exons
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Gene Expression Regulation, Enzymologic

Genotype

Humans

Molecular Sequence Data

Multigene Family

Steroid 17-alpha-Hydroxylase

Steroid Hydroxylases

Source

Open in PubMed

Identifiers

PMID: 2335573
DOI: 10.1210/jcem-70-5-1325

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2335573-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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